| 1 | PKDYS1, SLC6A3
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| Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
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| Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M.
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| Ann Hum Genet nn Hum Genet. 2020 Feb 20. doi: 10.1111/ahg.12378. [Epub ahead of print]
2020
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| 2 | PKDYS1, SLC6A3
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| Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.
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| Yildiz Y, Pektas E, Tokatli A, Haliloglu G.
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| Neuropediatrics 48(1):49-52. doi: 10.1055/s-0036-1593372. Epub 2016 Sep 30.
2017
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| 3 | PKDYS1, SLC6A3
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| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
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| Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.
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| Brain 137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
2014
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| 4 | PKDYS1, SLC6A3
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| Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
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| Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U.
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| J Clin Invest 124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9.
2014
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| 5 | PKDYS1, SLC6A3
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| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
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| Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.
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| Brain 137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
2014
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| 6 | PKDYS1, SLC6A3
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| Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
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| Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER.
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| Lancet Neurol 10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25.
2011
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| 7 | PKDYS1, SLC6A3
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| Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
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| Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER.
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| J Clin Invest 119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26.
2009
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